H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Abstract excerpt

Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well as more variable findings that include short stature, microcephaly, and facial dysmorphisms. A 4-year-old male with autism, developmental delay, microcephaly, and a happy demeanor underwent evaluation through...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Angelman Syndrome
• Share to Histones